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A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome.
Aoto, Yuya; Kise, Tomoo; Nakanishi, Koichi; Nagano, China; Horinouchi, Tomoko; Yamamura, Tomohiko; Ishiko, Shinya; Sakakibara, Nana; Shima, Yuko; Morisada, Naoya; Iijima, Kazumoto; Nozu, Kandai.
  • Aoto Y; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan. yuuya06@med.kobe-u.ac.jp.
  • Kise T; Division of Pediatric Nephrology, Okinawa Prefectural Nanbu Medical Center, Children's Medical Center, 118-1 Arakawa, Haebaru-cho, Simajiri-gun, Okinawa, 901-1105, Japan.
  • Nakanishi K; Department of Pediatrics, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara-cho, Nakagami-gun, Okinawa, 903-0125, Japan.
  • Nagano C; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
  • Horinouchi T; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
  • Yamamura T; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
  • Ishiko S; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
  • Sakakibara N; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
  • Shima Y; Department of Pediatrics, Wakayama Medical University, 811-1 Kimiidera, Wakayama, 641-8509, Japan.
  • Morisada N; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
  • Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
  • Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
CEN Case Rep ; 9(4): 431-436, 2020 11.
Article en En | MEDLINE | ID: mdl-32621070
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Colágeno Tipo IV / Reacción en Cadena de la Polimerasa Multiplex / Células Germinativas / Nefritis Hereditaria Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Colágeno Tipo IV / Reacción en Cadena de la Polimerasa Multiplex / Células Germinativas / Nefritis Hereditaria Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans Idioma: En Año: 2020 Tipo del documento: Article